Disease Information for Klipple-Feil syndrome

Klippel-Feil Syndrome;Cervical Vertebral Fusion; Congenital Cervical Synostosis;KFS; Subdivisions: Klippel-Feil Syndrome, Type I; Klippel-Feil Syndrome, Type II; Klippel-Feil Syndrome, Type III; This (KFS) is a rare condition that is evident at birth (congenital/genetic); KFS is primarily characterized by abnormal union or fusion of two or more bones of the spinal column (vertebrae) within the neck (cervical vertebrae); Some affected individuals may also have an abnormally short neck, restricted movement of the head and neck, and a low hairline at the back of the head (posterior hairline); In some individuals with KFS, the condition may be associated with additional physical abnormalities: These may include abnormal curvature of the spine (scoliosis), rib defects, or other skeletal abnormalities; hearing impairment; certain malformations of the head and facial (craniofacial) area; or structural abnormalities of the heart (congenital heart defects); In addition, in some cases, neurological complications may result due to associated spinal cord injury; In most individuals with KFS, the condition appears to occur randomly for unknown reasons (sporadically); However, in other cases, KFS may be inherited as an autosomal dominant or autosomal recessive trait---------(NORD 2005)---------

Klippel-Feil deformity; Klippel-Feil syndrome; Feil-Klippel syndrome; Klippel-Feil anomalad; Klippel-Feil phenotype;

Congenital brevicollis, congenital cervicothoracic vertebrae synostosis, congenital osseus-torticollis syndrome, congenital webbed neck syndrome, congenital synostosis of cervicothoracic vertebrae syndrome, congenital osseous-torticollis syndrome, dystrophia brevicollis congenita; Congenital anomaly characterized by a reduced number of cervical vertebrae or multiple hemivertebrae fused into a single osseous mass, producing a short and wide neck with limited motion; A low hairline is another constant characteristic;

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